Clinical Genome Resource

临床基因组资源

• 批准号: 9359632
• 负责人: David H. Ledbetter
• 金额: $ 306.17万
• 依托单位: BRIGHAM AND WOMEN'S HOSPITAL
• 依托单位国家: 美国
• 财政年份: 2013
• 资助国家: 美国
• 起止时间: 2013-09-23 至 2021-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/9359632
• 关键词: American; Basic Science; Biomedical Research; Biotechnology; Caring; Clinical; Clinical Research; Collaborations; Communities; Computer software; Copy Number Polymorphism; DNA; Data; Data Analyses; Databases; Deposition; Detection; Disease; Electronic Health Record; Ensure; Environment; Foundations; Funding; General Population; Genes; Genetic; Genetic screening method; Genome; Genomic medicine; Genomics; Goals; Guidelines; Health; Health Care Research; Healthcare; Human; Human Genetics; Human Genome Project; Individual; Knowledge; Laboratories; Link; Measures; Medical; Medical Genetics; Methods; Names; Ontology; Pathogenicity; Patient Care; Patients; Public Domains; Research; Research Infrastructure; Research Personnel; Resolution; Resources; Series; Source; Standardization; Structure; Testing; Time; United States National Institutes of Health; Update; Variant; Work; clinical care; clinical development; clinically actionable; clinically relevant; clinically significant; data archive; data exchange; data resource; data sharing; dosage; experience; federated computing; genetic variant; genomic data; genomic variation; health care delivery; health data; human disease; improved; informatics infrastructure; knowledge base; medical schools; non-genetic; novel; novel strategies; outreach; patient registry; phenotypic data; precision medicine; repository; tool; user-friendly; whole genome; working group

PROJECT SUMMARY Although knowledge in the field of human genetics has greatly increased since the time of the Human Genome Project, we still do not fully understand all of the ways in which genomic variation contributes to human health and disease. This proposal represents one of three linked U41 applications to continue support for the Clinical Genome Resource (ClinGen; www.clinicalgenome.org). The main goals of the ClinGen project are to support the deposition of genomic and health data into the public domain by all stakeholders, including patients, clinicians, laboratories, and researchers, develop methods and an informatics infrastructure to answer critical questions of the data (curation), and create a genomic knowledge base that makes this information available to the community for improved patient care. We have structured this proposal into five overarching aims to meet ClinGen's goals: 1) data sharing, 2) standardized approaches to interpretation of genes and variants, 3) software and informatics infrastructure to support and enhance interpretation, 4) community-driven efforts for curation and interpretation, and 5) outreach to maximize the impact of the ClinGen resource. To make high-quality genomic variant data available to the public, we will build upon the standards, experience and infrastructure we have developed during our first funding period. We will capitalize on our collaborative relationships with clinical laboratories to capture the clinical-grade interpretations of millions of genetic sequencing tests generated through the course of routine patient clinical care. All genomic variants and their interpretations will continue to be submitted to and made accessible through our partnership with the ClinVar database within NIH's National Center for Biotechnology Information (NCBI). We will also help to augment the genomic data with phenotype data collected through GenomeConnect, ClinGen's patient registry for individuals who have had genetic testing. ClinGen will use this shared genomic and health information to answer critical questions regarding relevance to human health and disease around clinical validity for gene/disease associations, variant pathogenicity and clinical actionability. Clinical Domain Working Groups (CDWG) and Expert Panels (EP) will enable disease experts to curate sets of genes and variants following approaches developed as part of the ClinGen project. Finally, we will make the ClinGen knowledge base widely available by developing “clinician-friendly” user interfaces and supporting automatic EHR updates through the newly developed ClinGen EHR App to improve the quality of patient care through genomic medicine.

项目总结